Jump to:
loading...| Preferred Name |
Urea_Cycle_Metabolism_Disorder |
|
| Synonyms |
|
|
| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Urea_Cycle_Metabolism_Disorder |
|
| ID |
C84785 |
|
| NCI_Definition |
A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. |
|
| NCI_PT |
Inborn Urea Cycle Disorder |
|
| NICHD_Definition |
_ |
|
| prefixIRI |
Urea_Cycle_Metabolism_Disorder |
|
| prefLabel |
Urea_Cycle_Metabolism_Disorder |
|
| Subset_Association1 |
NICHD Pediatric Terminology |
|
| Subset_Association2 |
Neonatal Research Network Terminology |
|
| SYN |
Disorder of Urea Cycle Metabolism |
|
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Metabolic_Disorder |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84785 | NCIT | LOOM | |
| http://purl.obolibrary.org/obo/NCIT_C84785 | BERO | LOOM | |
| http://pat.nichd.nih.gov/maternalconditions/C0154246 | PATMHC | LOOM |